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Invitae Reflects on Consumer-Initiated Test Pilot, Plans Improvements to Counseling Outreach


NEW YORK – With results in hand from the first users of its consumer-initiated genetic testing program, Invitae is working to incorporate the findings, adjusting some processes for contacting participants and furnishing appropriate genetic counseling for what it expects to be an expanding customer base.

The company announced its intention to offer consumer- or patient-initiated testing this January during the JP Morgan Healthcare Conference and spend the first several months of the year piloting the effort among Invitae employees, friends, and family members. 

Reporting during a webinar earlier this month, Invitae shared that 144 individuals had tests during the pilot, with many receiving a positive result of some kind — either a cancer or cardiovascular risk variant, or positive carrier status. And according to the company, some of the takeaways, especially around returning results and recommending follow-on counseling, serve to illustrate areas the company hopes to tweak as it begins to serve more of the non-pilot customers who have been able to order tests since the beginning of June.

Structurally, the patient-initiated model couples online test ordering with telemedicine services in partnership with Genome Medical and PWN Health.

Individuals seeking out testing have a choice among Invitae's proactive tests, a service the company began offering a few years ago for those who lack the personal or family history that would warrant diagnostic risk testing. Cancer-specific and cardio-specific panels each cost $250, and a comprehensive genetic health screen, including both focused panels plus "some additional genes," provides a third option for $350.

Customers can alternatively order a $250 carrier screening panel or request diagnostic testing to investigate symptoms or suspected disease risk.

In its webinar, Invitae marketing manager Mansi Pathak provided a demo of the patient-directed channel, which includes a chatbot to help customers decide among the three offered test paths.

"This is not meant to be pre-test genetic counseling, simply a tool to use if patients are unsure which test to select," Pathak said.

For all three proactive pathways, a PWN Health clinician reviews the test order alongside health history information, determining whether the sought-out test is appropriate. In some cases, an individual may order a proactive test, but family history information they supply would indicate that they would be better served by diagnostic testing.  

The health history required for every proactive test order includes ancestry information, personal health history for any disorders that are covered by the screen, family health history, and information on whether anyone in the family has had prior genetic testing.

If the PWN Health clinician reviewing the history has questions or needs to follow up with an ordering individual, they have different outreach methods they can use to do this, Pathak said.

For patients going through the diagnostic test channel, the system requires a full pre-test consultation with a clinician. This can be an online consultation through Genome Medical, at a cost of $129 self-pay, or a $50 visit fee with in-network coverage through Cigna or billed out of network to other insurances.

Customers can alternately choose options to "find a local genetics provider" using Invitae's genetics provider network, or if they already have a doctor who can order the test they can download a letter that their physician can use to place the order. 

Reporting during the company webinar on the results seen in early users from the friends-and-family pilot, Invitae genetic counseling services lead Kate Lynch said that a total of 144 individuals had tests completed. Of these, 48 opted for the carrier screen, 85 sought the proactive genetic health screening, five had the cancer-only proactive panel, one had the cardio-only panel, and five others who initially ordered a proactive test were flagged by PWN Health and diverted to the diagnostic testing process through Genome Medical.

Focusing on the comprehensive genetic health panel, which was the more frequently ordered, Lynch reported that among 85 tests performed, 35 returned a positive carrier result, including alterations in MUTYH, HFE, SERPINA1, F2, and F5. Two individuals had the APCI1307K cancer risk allele, and eight were positive for mutations in APOB, ATM, CHEK2, DSP, LDLR, MYBPC3, TGFBR1, and VHL. The remaining 40 were negative.

The online system to reports results includes information on the gene and variant identified, access to additional information and resources, and the opportunity to click through to seek out genetic counseling. Patients with certain positive results also receive an email offering a direct link for counseling.

Of the eight individuals with high-risk cancer or cardio findings in the pilot cohort, four have scheduled counseling to date, Lynch said. One of the remaining four was already aware of their pathogenic variant, leaving three with positive results who have not yet scheduled counseling.

The two patients with APCI1307K results were also emailed a direct link to counseling and one of the two has scheduled, Lynch reported.

For those with carrier status findings, an email isn't always sent. Findings with particularly severe implications like MUTYH variants will trigger an email, as can family history findings flagged by PWN Health, but all those with a positive report can still opt for genetic counseling from their online results portal. So too can those with negative results, Lynch stressed.

According to Lynch, 11 individuals from the group with positive carrier status findings have sought genetic counseling thus far.

Importantly, PWN Health also flags cases with negative results who they deem to still have evidence of increased residual risk. There were five of these in the pilot cohort, of which one has scheduled counseling to date.

According to Lynch, this flagging process is crucial to the consumer-initiated model, because it allows Invitae to avoid having at-risk individuals fall through the cracks. "That does feel very important to us clinically … and [we] hope that this demonstrates really the forethought that went into the development of this process," she said during the webinar.

Lynch did not discuss the results for individuals who ordered carrier testing only during the webinar, but she said this week that out of those 48 tests, 17 reported out negative and 31 were positive. Julia Wilkinson, another Invitae counsellor who deals with a lot of the company's reproductive health tests, said that the breakdown is very close to what they see for carrier screening outside the new patient-led model. 

"About 65 to 75 percent positive is exactly where we expect it to be," she said. Out of the 48 tested individuals, Lynch added, five made genetic counseling appointments. This might not sound like an exciting number, she said, but it's actually considerably higher than what Invitae has seen for its non-patient-directed tests.

Lynch admitted that the friends-and-family cohort may not be a great representation of what the company's customer base will look like going forward. They likely knew more about genetics and inherited conditions than the general public. Some may be family members of genetic counsellors, or even have knowledge of their genetic status that would skew how they responded to the service.

For one thing, there were relatively few individuals who ended up being directed to diagnostic testing in the group — pilot participants were only allowed to order from the proactive part of the test menu. But Lynch said the company is expecting to see many more individuals going through the diagnostic pathway, either directly or bumped there by PWN Health's assessment of personal and family medical history.

Despite this, the results Invitae saw in the pilot population have still spurred some important insight into how the program could be tweaked moving forward.

For oneand responses in the pilot group reiterate the importance of improving the mechanimsms for interacting with customers regarding counselling opportunities: something the team has already been working to implement, creatning additional notification workflows that will allow them to re-ping those that have had emails recommending counseling, but who haven't yet scheduled it.

The goal isn't necessarily to get everyone to go through counseling with an Invitae counselor. Rather, the company wants to have a mechanism to "close the loop on every patient."  The company wants to know that people are not declining to seek counseling because they didn't get the message: that they've reached everyone.

It could also mean patients "have the opportunity to say 'I hear you Invitae but I don't want your counseling,'" Lynch explained. In other words, the loop could be closed by someone getting counseling through Invitae, by them stating an intention to get counselling elsewhere, or by them directly declining or opting out. "But at least we know they are hearing us," she said.

Additionally, the group is trying to work out if they can build functionality into the system to collect information (if customers are willing) on why counseling is declined when it is — something that could be valuable to the larger genetics community if patient-directed systems like Invitae's and consumer-targeted products become more widespread. "We can study if there is a misconception, or a different unmet need … is there anything we can do to understand those reasons," Lynch said.  

The pilot results also seem to track with what Invitae has put forward as the rationale for offering proactive and now patient-initiated testing: lifting barriers that patients may face due to cost, outdated guidelines, or restrictive insurance coverage policies.

Based on its overall experience with proactive testing, the company has calculated that about one in six otherwise healthy individuals who receive testing turn out to have been at risk for an actionable genetic condition of some kind.

Lynch said during the webinar that she and her colleagues held focus groups and meetings with genetic counselors as they developed the patient-initiated system, asking for feedback on the utility of this model. Respondents reported that they saw the approach as providing important options for adoptees, for family members who live far from a proband, or simply for patients reporting history of conditions outside a particular counsellor's expertise.

Speaking this week, Lynch said the group hasn't started analyzing patterns from the tests coming in since the patient-initiated system was opened up to the general public in June, but the company is gearing up for an increased volume of genetic counseling requests.

"it's a fantastic problem to have," she said during the webinar, "and we are increasing the size of the team, which has recently grown to 14 people."

The company also just completed a series of post-test videos on some of the more common test results, which can be used in both the patient-initiated test pathway and through the company's normal pathways.

During a question and answer session following the webinar, Mansi said that the company is also working on plans to make the patient-initiated model available outside the US, but that a firm strategy isn't in place yet.

Finally, Invitae has expanded in recent years to offers testing beyond the core genetic risk and carrier screening it portaged into the new patient-directed model. But these other services will remain physician-order only, at least for now. For example, the company recently launched a non-invasive prenatal screening test, but this will decidedly not become a part of the patient-initiated pathway, the firm said.